DENND5A

Chr 11p15.4

DENN domain containing 5A

Aliases:: KIAA1091, FLJ22354, FLJ33829, FLJ43455
MANE:: ENST00000328194.8

OMIM: 617278 ↗NCBI: 23258 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

DENND5A · Q6IQ26

v62025-08-01

Predicted Aligned Error matrix for DENND5A — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

77.1/ 100

Confident

1,287 residues

Confidence breakdown

Very high(≥ 90)44%
Confident(70–90)28%
Low(50–70)11%
Very low(< 50)18%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Hydrocephalus
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

genetic developmental and epileptic encephalopathy
0.66
neurodegenerative disease
0.48
Epileptic encephalopathy
0.46
ocular hypertension
0.34
migraine disorder
0.27
skin disorder
0.26
hypertrophic cardiomyopathy
0.24
hereditary disease
0.19
coronary artery disorder
0.10
cardiovascular disorder
0.04

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

DENN domain-containing protein 5A

Guanine nucleotide exchange factor (GEF) which may activate RAB6A and RAB39A and/or RAB39B. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form. Involved in the negative regulation of neurite outgrowth (By similarity)